Disease and phenotype data at Ensembl

Biological databases are an important resource for the life sciences community. Accessing the hundreds of databases supporting molecular biology and related fields is a daunting and time-consuming task. Integrating this information into one access point is a necessity for the life sciences community...

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Bibliographic Details
Published inCurrent protocols in human genetics Vol. Chapter 6; p. Unit 6.11
Main Authors Spudich, Giulietta M, Fernández-Suárez, Xosé M
Format Journal Article
LanguageEnglish
Published United States 01.04.2011
Subjects
Computational Biology - instrumentation
Computational Biology - methods
Databases, Genetic
Disease - genetics
Genome, Human
Humans
Information Storage and Retrieval
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Summary:Biological databases are an important resource for the life sciences community. Accessing the hundreds of databases supporting molecular biology and related fields is a daunting and time-consuming task. Integrating this information into one access point is a necessity for the life sciences community, which includes researchers focusing on human disease. Here we discuss the Ensembl genome browser, which acts as a single entry point with Graphical User Interface to data from multiple projects, including OMIM, dbSNP, and the NHGRI GWAS catalog. Ensembl provides a comprehensive source of annotation for the human genome, along with other species of biomedical interest. In this unit, we explore how to use the Ensembl genome browser in example queries related to human genetic diseases. Support protocols demonstrate quick sequence export using the BioMart tool.
ISSN:1934-8258
DOI:10.1002/0471142905.hg0611s69